Variant report

Variant	rs11115408
Chromosome Location	chr12:83166747-83166748
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10047600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10047619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10082955	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10083084	1.00[ASN][1000 genomes]
rs10506882	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10778911	1.00[ASN][1000 genomes]
rs10778912	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10778913	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10862502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862504	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862507	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862511	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs10862512	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10862513	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115388	1.00[CHB][hapmap]
rs11115389	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115390	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115391	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115392	1.00[ASN][1000 genomes]
rs11115393	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115396	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115397	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115398	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115400	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115403	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115404	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115405	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115406	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115407	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115409	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115411	1.00[ASN][1000 genomes]
rs11115412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115414	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115415	0.81[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11115416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115418	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115430	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115431	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11115433	0.90[CEU][hapmap];1.00[ASN][1000 genomes]
rs11115434	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs11115435	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115437	1.00[ASN][1000 genomes]
rs11115445	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115446	1.00[ASN][1000 genomes]
rs11115447	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115448	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115449	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115450	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11115451	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11609468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11830781	1.00[ASN][1000 genomes]
rs11835207	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11836973	1.00[CHB][hapmap]
rs12146872	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12296710	1.00[ASN][1000 genomes]
rs12304482	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305861	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305927	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307933	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12308668	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311396	1.00[CHB][hapmap]
rs12313857	1.00[ASN][1000 genomes]
rs12317459	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12320924	1.00[ASN][1000 genomes]
rs12369186	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369671	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370719	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17010057	1.00[CHB][hapmap]
rs17010061	1.00[CHB][hapmap]
rs1858059	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs58129519	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539689	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6539693	1.00[ASN][1000 genomes]
rs7132287	1.00[ASN][1000 genomes]
rs7133916	0.91[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295371	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296213	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7299047	1.00[ASN][1000 genomes]
rs7299341	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7303906	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7308736	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310087	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312288	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7315531	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7315880	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7979743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv2755991	chr12:83105631-83248605	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv469491	chr12:83108395-83203742	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv559543	chr12:83108395-83203742	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv2754173	chr12:83125000-83245838	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2754509	chr12:83133090-83203742	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv999149	chr12:83137872-83206342	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	nsv1041674	chr12:83162082-83207782	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83150600-83174400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83151600-83168600	Weak transcription	Gastric	stomach
3	chr12:83151600-83173200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:83153200-83168400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:83153200-83198600	Weak transcription	Fetal Intestine Small	intestine
6	chr12:83155200-83177200	Weak transcription	Fetal Kidney	kidney
7	chr12:83155400-83169800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:83157200-83196000	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:83158400-83168400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:83162200-83173800	Weak transcription	Fetal Lung	lung
11	chr12:83162600-83169600	Weak transcription	Brain Substantia Nigra	brain
12	chr12:83162800-83168400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:83162800-83168400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:83162800-83169800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:83162800-83174600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:83163000-83168000	Weak transcription	Fetal Stomach	stomach
17	chr12:83163000-83168400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:83163000-83170000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:83163000-83172800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:83164400-83176200	Weak transcription	Fetal Heart	heart
21	chr12:83165600-83166800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:83166000-83170200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:83166400-83168600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:83166600-83167200	Enhancers	Stomach Mucosa	stomach

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